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Hereditary breast ovarian cancer syndrome

MedGen UID:
151793
•Concept ID:
C0677776
•
Neoplastic Process
Synonyms: Breast and ovarian cancer; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC)
SNOMED CT: Hereditary breast and ovarian cancer syndrome (718220008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Genes (locations): BRCA1 (17q21.31); BRCA2 (13q13.1)
Related genes: RAD51D, RAD51C
 
Monarch Initiative: MONDO:0003582
Orphanet: ORPHA145

Disease characteristics

Excerpted from the GeneReview: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Nancie Petrucelli  |  Mary B Daly  |  Tuya Pal   view full author information

Professional guidelines

PubMed

Uterine serous carcinoma: key advances and novel treatment approaches.
Ferriss JS, Erickson BK, Shih IM, Fader AN
Int J Gynecol Cancer 2021 Aug;31(8):1165-1174. Epub 2021 Jul 1 doi: 10.1136/ijgc-2021-002753. PMID: 34210768
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Hereditary breast-ovarian cancer: clinical findings and medical management.
Marshall M, Solomon S
Plast Surg Nurs 2007 Jul-Sep;27(3):124-7. doi: 10.1097/01.PSN.0000290280.48197.e7. PMID: 17901820

Curated

UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023

UK NICE Clinical guideline (CG122), Ovarian cancer: recognition and initial management, 2023

NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022

American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

Suggested Reading

PubMed

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet]
Nelson HD, Pappas M, Cantor A, Haney E, Holmes R, Stillman L
Rockville (MD): Agency for Healthcare Research and Quality (US); 2019 Aug; PMID: 31479213Books & Documents
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation [Internet]
Nelson HD, Fu R, Goddard K, Mitchell JP, Okinaka-Hu L, Pappas M, Zakher B
Rockville (MD): Agency for Healthcare Research and Quality (US); 2013 Dec; PMID: 24432435Books & Documents
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
Phillips KA, Milne RL, Rookus MA, Daly MB, Antoniou AC, Peock S, Frost D, Easton DF, Ellis S, Friedlander ML, Buys SS, Andrieu N, Noguès C, Stoppa-Lyonnet D, Bonadona V, Pujol P, McLachlan SA, John EM, Hooning MJ, Seynaeve C, Tollenaar RA, Goldgar DE, Terry MB, Caldes T, Weideman PC, Andrulis IL, Singer CF, Birch K, Simard J, Southey MC, Olsson HL, Jakubowska A, Olah E, Gerdes AM, Foretova L, Hopper JL
J Clin Oncol 2013 Sep 1;31(25):3091-9. Epub 2013 Aug 5 doi: 10.1200/JCO.2012.47.8313. PMID: 23918944Free PMC Article
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.
Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t'veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR
JAMA 2010 Sep 1;304(9):967-75. doi: 10.1001/jama.2010.1237. PMID: 20810374Free PMC Article
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Current Approaches to Pancreatic Cancer Screening.
Chhoda A, Lu L, Clerkin BM, Risch H, Farrell JJ
Am J Pathol 2019 Jan;189(1):22-35. doi: 10.1016/j.ajpath.2018.09.013. PMID: 30558719
Familial Pancreatic Cancer and the Future of Directed Screening.
Welinsky S, Lucas AL
Gut Liver 2017 Nov 15;11(6):761-770. doi: 10.5009/gnl16414. PMID: 28609837Free PMC Article
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
The molecular genetics of hereditary and sporadic ovarian cancer: implications for the future.
Al Bakir M, Gabra H
Br Med Bull 2014 Dec;112(1):57-69. doi: 10.1093/bmb/ldu034. PMID: 25473022

Diagnosis

Current Approaches to Pancreatic Cancer Screening.
Chhoda A, Lu L, Clerkin BM, Risch H, Farrell JJ
Am J Pathol 2019 Jan;189(1):22-35. doi: 10.1016/j.ajpath.2018.09.013. PMID: 30558719
Familial Pancreatic Cancer and the Future of Directed Screening.
Welinsky S, Lucas AL
Gut Liver 2017 Nov 15;11(6):761-770. doi: 10.5009/gnl16414. PMID: 28609837Free PMC Article
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
Hereditary pancreatic cancer.
Lynch HT, Brand RE, Deters CA, Shaw TG, Lynch JF
Pancreatology 2001;1(5):466-71. doi: 10.1159/000055849. PMID: 12120226

Therapy

Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
BRCA1/2 germline mutations in Jewish patients with uterine serous carcinoma.
Bruchim I, Amichay K, Kidron D, Attias Z, Biron-Shental T, Drucker L, Friedman E, Werner H, Fishman A
Int J Gynecol Cancer 2010 Oct;20(7):1148-53. doi: 10.1111/IGC.0b013e3181ef622d. PMID: 21206239
The potential of PARP inhibitors in genetic breast and ovarian cancers.
Drew Y, Calvert H
Ann N Y Acad Sci 2008 Sep;1138:136-45. doi: 10.1196/annals.1414.020. PMID: 18837894
Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome.
Roukos DH, Briasoulis E
Nat Clin Pract Oncol 2007 Oct;4(10):578-90. doi: 10.1038/ncponc0930. PMID: 17898808
Prophylactic surgery in hereditary breast/ovarian cancer syndrome.
Levine DA, Gemignani ML
Oncology (Williston Park) 2003 Jul;17(7):932-41; discussion 946-8, 950-2. PMID: 12886864

Prognosis

Uterine serous carcinoma: key advances and novel treatment approaches.
Ferriss JS, Erickson BK, Shih IM, Fader AN
Int J Gynecol Cancer 2021 Aug;31(8):1165-1174. Epub 2021 Jul 1 doi: 10.1136/ijgc-2021-002753. PMID: 34210768
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
Accelerated geroncogenesis in hereditary breast-ovarian cancer syndrome.
Menendez JA, Folguera-Blasco N, Cuyàs E, Fernández-Arroyo S, Joven J, Alarcón T
Oncotarget 2016 Mar 15;7(11):11959-71. doi: 10.18632/oncotarget.7867. PMID: 26943589Free PMC Article
Familial pancreatic cancer: genetic advances.
Rustgi AK
Genes Dev 2014 Jan 1;28(1):1-7. doi: 10.1101/gad.228452.113. PMID: 24395243Free PMC Article

Clinical prediction guides

Retrospective evaluation of risk-reducing salpingo-oophorectomy for BRCA1/2 pathogenic variant carriers among a cohort study in a single institution.
Kobayashi Y, Hirasawa A, Chiyoda T, Ueki A, Masuda K, Misu K, Kawaida M, Hayashi S, Kataoka F, Banno K, Kosaki K, Aoki D
Jpn J Clin Oncol 2021 Feb 8;51(2):213-217. doi: 10.1093/jjco/hyaa173. PMID: 33037428
Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.
Santos C, Peixoto A, Rocha P, Pinto P, Bizarro S, Pinheiro M, Pinto C, Henrique R, Teixeira MR
J Mol Diagn 2014 May;16(3):324-34. Epub 2014 Mar 5 doi: 10.1016/j.jmoldx.2014.01.005. PMID: 24607278
Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
Casey MJ, Bewtra C, Lynch HT, Snyder C, Stacy M, Watson P
Fam Cancer 2013 Dec;12(4):719-40. doi: 10.1007/s10689-013-9651-x. PMID: 23666231
Breast cancer genetics: family history, heterogeneity, molecular genetic diagnosis, and genetic counselling.
Lynch HT, Lynch JF
Curr Probl Cancer 1996 Nov-Dec;20(6):329-65. doi: 10.1016/s0147-0272(96)80010-9. PMID: 8976406

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023
    • NICE, 2023
      UK NICE Clinical guideline (CG122), Ovarian cancer: recognition and initial management, 2023
    • NCCN, 2022
      NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022
    • ACMG ACT, 2019
      American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (Bookshelf cited)
      Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries
    • PubMed (GeneReviews)
      GeneReviews in PubMed

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